Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.L100L

KCNE1

716 papers

RefSeq Summary

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophys...

Pfam Domains

ISK_Channelaa 1–126UCSCSlow voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily E regulatory subunit 1

HGNC Alias Symbols

IsK; JLNS2; LQT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000219.6
p.L100L
c.298C>T
Surrounding Variants
1 paper
NM_000219.6
p.L100V
c.298C>G
1 paper
NM_000219.6
p.L100M
c.298C>A
1 paper
NM_000219.6
p.L100R
c.299T>G
1 paper
NM_000219.6
p.L100P
c.299T>C
1 paper
NM_000219.6
p.L100Q
c.299T>A
1 paper
NM_000219.6
p.V99V
c.297C>T
1 paper
NM_000219.6
p.V99V
c.297C>G
1 paper
NM_000219.6
p.V99V
c.297C>A
1 paper
NM_000219.6
p.V99G
c.296T>G
1 paper
NM_000219.6
p.V99A
c.296T>C
1 paper
NM_000219.6
p.V99D
c.296T>A
1 paper
NM_000219.6
p.L100L
c.300G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."